NM_181798.1(KCNQ1):c.1305-2A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 9, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000786150.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1305-2A>G]

NM_181798.1(KCNQ1):c.1305-2A>G

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.1305-2A>G
HGVS:
  • NC_000011.10:g.2776984A>G
  • NG_008935.1:g.336994A>G
  • NM_000218.2:c.1686-2A>G
  • NM_181798.1:c.1305-2A>G
  • LRG_287t1:c.1686-2A>G
  • LRG_287t2:c.1305-2A>G
  • LRG_287:g.336994A>G
  • NC_000011.9:g.2798214A>G
Links:
dbSNP: rs878854350
NCBI 1000 Genomes Browser:
rs878854350
Molecular consequence:
  • NM_000218.2:c.1686-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181798.1:c.1305-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924825Stanford Center for Inherited Cardiovascular Disease, Stanford Universityno assertion criteria providedPathogenic
(Mar 9, 2017)
germlineprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924825.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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